Cystic Fibrosis is an inherited disease. It mostly affects the digestive system and respiratory system (lungs).
Statistics:
About 1,000 new cases of CF are diagnosed every year.
More than 70% of patients are diagnosed by age 2.
About 45% of patient population is 18 or older.
The median age of survival of patients is in the mid 30's
Location:
Cystic fibrosis mutation is located on the region q31.2 on the long (q) arm of human chromosome 7. This means that it is on the 7th chromosome and is on the Q chromatid.
What Protein? When the protein CFTR (cystic fibrosis transmembrane conductance regulator) is defective, epithelial cells can't control the amount of chloride that goes through the cell membranes. usually, there is a thin layer of fluid and mucus in the pancreas, lungs and passage ways. When you have CF, This mucus get thicker and very hard to move.
The reason people have mucus is because it helps catch bad germs that will affect you, then it clears them out. When you have thick mucus, it still catches the bad germs, but it keeps them there and your body gets infected.
These videos explain more about this disease and protein which causes it:
Statistics:
About 1,000 new cases of CF are diagnosed every year.
More than 70% of patients are diagnosed by age 2.
About 45% of patient population is 18 or older.
The median age of survival of patients is in the mid 30's
Location:
Cystic fibrosis mutation is located on the region q31.2 on the long (q) arm of human chromosome 7.
This means that it is on the 7th chromosome and is on the Q chromatid.
What Protein?
When the protein CFTR (cystic fibrosis transmembrane conductance regulator) is defective, epithelial cells can't control the amount of chloride that goes through the cell membranes. usually, there is a thin layer of fluid and mucus in the pancreas, lungs and passage ways. When you have CF, This mucus get thicker and very hard to move.
The reason people have mucus is because it helps catch bad germs that will affect you, then it clears them out. When you have thick mucus, it still catches the bad germs, but it keeps them there and your body gets infected.
These videos explain more about this disease and protein which causes it: